Mutagenetix > Incidental Mutation

Incidental Mutation 'R1124:Trip12'

95918

Institutional Source

Beutler Lab

Gene Symbol

Trip12

Ensembl Gene

ENSMUSG00000026219

Gene Name

thyroid hormone receptor interactor 12

Synonyms

Gtl6, 1110036I07Rik, 6720416K24Rik

MMRRC Submission

039197-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1124 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84698910-84818237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84714758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 443 (V443E)

Ref Sequence

ENSEMBL: ENSMUSP00000140789 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027421] [ENSMUST00000186465] [ENSMUST00000186648] [ENSMUST00000189670]

AlphaFold

G5E870

Predicted Effect

probably damaging
Transcript: ENSMUST00000027421
AA Change: V1638E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027421
Gene: ENSMUSG00000026219
AA Change: V1638E

Domain	Start	End	E-Value	Type
low complexity region	34	39	N/A	INTRINSIC
low complexity region	153	172	N/A	INTRINSIC
low complexity region	177	188	N/A	INTRINSIC
low complexity region	191	215	N/A	INTRINSIC
low complexity region	231	247	N/A	INTRINSIC
low complexity region	379	391	N/A	INTRINSIC
low complexity region	392	406	N/A	INTRINSIC
low complexity region	416	427	N/A	INTRINSIC
SCOP:d1ee4a_	446	660	5e-20	SMART
PDB:1WA5\|B	447	641	1e-5	PDB
Pfam:WWE	765	831	7.6e-22	PFAM
low complexity region	983	1006	N/A	INTRINSIC
low complexity region	1033	1047	N/A	INTRINSIC
low complexity region	1062	1073	N/A	INTRINSIC
low complexity region	1333	1344	N/A	INTRINSIC
low complexity region	1345	1362	N/A	INTRINSIC
Blast:HECTc	1363	1417	8e-8	BLAST
Blast:HECTc	1573	1629	2e-24	BLAST
HECTc	1636	2025	1.29e-177	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000186465
AA Change: V1638E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140224
Gene: ENSMUSG00000026219
AA Change: V1638E

Domain	Start	End	E-Value	Type
low complexity region	34	39	N/A	INTRINSIC
low complexity region	153	172	N/A	INTRINSIC
low complexity region	177	188	N/A	INTRINSIC
low complexity region	191	215	N/A	INTRINSIC
low complexity region	231	247	N/A	INTRINSIC
low complexity region	379	391	N/A	INTRINSIC
low complexity region	392	406	N/A	INTRINSIC
low complexity region	416	427	N/A	INTRINSIC
SCOP:d1ee4a_	446	660	5e-20	SMART
PDB:1WA5\|B	447	641	1e-5	PDB
Pfam:WWE	761	831	2.2e-22	PFAM
low complexity region	983	1006	N/A	INTRINSIC
low complexity region	1033	1047	N/A	INTRINSIC
low complexity region	1062	1073	N/A	INTRINSIC
low complexity region	1333	1344	N/A	INTRINSIC
low complexity region	1345	1362	N/A	INTRINSIC
Blast:HECTc	1363	1417	8e-8	BLAST
Blast:HECTc	1573	1629	2e-24	BLAST
HECTc	1636	2025	1.29e-177	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000186648
AA Change: V1605E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139563
Gene: ENSMUSG00000026219
AA Change: V1605E

Domain	Start	End	E-Value	Type
low complexity region	34	39	N/A	INTRINSIC
low complexity region	153	172	N/A	INTRINSIC
low complexity region	177	188	N/A	INTRINSIC
low complexity region	191	215	N/A	INTRINSIC
low complexity region	231	247	N/A	INTRINSIC
low complexity region	386	400	N/A	INTRINSIC
low complexity region	410	421	N/A	INTRINSIC
SCOP:d1ee4a_	440	654	5e-20	SMART
PDB:1WA5\|B	441	635	1e-5	PDB
low complexity region	950	973	N/A	INTRINSIC
low complexity region	1000	1014	N/A	INTRINSIC
low complexity region	1029	1040	N/A	INTRINSIC
low complexity region	1300	1311	N/A	INTRINSIC
low complexity region	1312	1329	N/A	INTRINSIC
Blast:HECTc	1330	1384	7e-8	BLAST
Blast:HECTc	1540	1596	2e-24	BLAST
HECTc	1603	1992	6.2e-180	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000189670
AA Change: V443E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140789
Gene: ENSMUSG00000026219
AA Change: V443E

Domain	Start	End	E-Value	Type
low complexity region	138	149	N/A	INTRINSIC
low complexity region	150	167	N/A	INTRINSIC
Blast:HECTc	168	222	5e-8	BLAST
Blast:HECTc	378	434	1e-24	BLAST
HECTc	441	830	6.2e-180	SMART

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.7%
20x: 86.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an E3 ubiquitin-protein ligase involved in the degradation of the p19ARF/ARF isoform of CDKN2A, a tumor suppressor. The encoded protein also plays a role in the DNA damage response by regulating the stability of USP7, which regulates tumor suppressor p53. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a targeted allele exhibit complete embryonic lethality during organogenesis associated with embryonic growth retardation and abnormal placenta development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	C	T	14: 32,384,039 (GRCm39)	R642Q	possibly damaging	Het
Aadacl2fm3	A	G	3: 59,772,639 (GRCm39)	T48A	probably benign	Het
Aadacl4fm1	A	G	4: 144,255,194 (GRCm39)	T205A	probably benign	Het
Aadacl4fm4	T	C	4: 144,396,845 (GRCm39)	S296G	probably benign	Het
Anxa10	C	T	8: 62,514,038 (GRCm39)		probably null	Het
Bcl11a	A	T	11: 24,113,928 (GRCm39)	M424L	probably damaging	Het
Bhlhe41	A	G	6: 145,809,456 (GRCm39)	S119P	probably damaging	Het
C2cd3	A	G	7: 100,071,888 (GRCm39)	D1033G	probably benign	Het
Ccdc174	T	C	6: 91,876,561 (GRCm39)	V466A	probably benign	Het
Dnaaf11	T	A	15: 66,310,264 (GRCm39)	T335S	possibly damaging	Het
Drd2	T	C	9: 49,306,940 (GRCm39)	Y9H	probably damaging	Het
Fbxw14	T	A	9: 109,105,236 (GRCm39)	I310F	possibly damaging	Het
Grm3	C	T	5: 9,620,297 (GRCm39)	V316I	probably benign	Het
Gys2	A	G	6: 142,391,739 (GRCm39)	Y508H	probably damaging	Het
Lrp1b	T	A	2: 40,765,063 (GRCm39)	D2921V	probably damaging	Het
Macrod2	A	G	2: 140,294,547 (GRCm39)	K71R	probably damaging	Het
Myh7	A	T	14: 55,211,327 (GRCm39)	V1614E	possibly damaging	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Or8k23	T	A	2: 86,186,239 (GRCm39)	K162N	probably damaging	Het
Pirb	T	A	7: 3,722,731 (GRCm39)	N87I	probably benign	Het
Pmfbp1	A	G	8: 110,257,115 (GRCm39)		probably null	Het
Rasa4	A	G	5: 136,134,510 (GRCm39)	N627S	probably benign	Het
Spata31d1b	A	C	13: 59,864,468 (GRCm39)	M539L	probably benign	Het
Tbc1d23	A	T	16: 57,034,525 (GRCm39)		probably null	Het
Tnfrsf1b	A	T	4: 144,950,926 (GRCm39)	L229Q	probably benign	Het
Ush2a	G	T	1: 188,485,733 (GRCm39)	V2948L	probably damaging	Het
Vmn1r204	A	T	13: 22,741,209 (GRCm39)	Y280F	possibly damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vmn2r93	G	T	17: 18,518,710 (GRCm39)	K56N	probably benign	Het
Xrn1	A	G	9: 95,885,918 (GRCm39)	I880V	probably benign	Het
Zfp106	C	T	2: 120,365,195 (GRCm39)	G404E	probably benign	Het

Other mutations in Trip12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Trip12	APN	1	84,708,262 (GRCm39)	missense	probably damaging	1.00
IGL00430:Trip12	APN	1	84,741,582 (GRCm39)	missense	probably damaging	0.96
IGL00465:Trip12	APN	1	84,741,582 (GRCm39)	missense	probably damaging	0.96
IGL00819:Trip12	APN	1	84,731,993 (GRCm39)	missense	probably damaging	1.00
IGL00900:Trip12	APN	1	84,702,485 (GRCm39)	missense	possibly damaging	0.56
IGL00990:Trip12	APN	1	84,729,605 (GRCm39)	missense	probably damaging	0.99
IGL01087:Trip12	APN	1	84,735,580 (GRCm39)	missense	probably damaging	0.99
IGL01400:Trip12	APN	1	84,729,699 (GRCm39)	missense	probably damaging	0.99
IGL01521:Trip12	APN	1	84,743,919 (GRCm39)	splice site	probably benign
IGL01619:Trip12	APN	1	84,792,631 (GRCm39)	missense	probably damaging	0.99
IGL01796:Trip12	APN	1	84,705,999 (GRCm39)	missense	probably benign	0.42
IGL01975:Trip12	APN	1	84,792,534 (GRCm39)	splice site	probably benign
IGL02190:Trip12	APN	1	84,743,791 (GRCm39)	missense	probably damaging	0.98
IGL02474:Trip12	APN	1	84,771,854 (GRCm39)	missense	probably benign
IGL02517:Trip12	APN	1	84,721,535 (GRCm39)	unclassified	probably benign
IGL02631:Trip12	APN	1	84,743,729 (GRCm39)	missense	possibly damaging	0.91
IGL02991:Trip12	APN	1	84,716,536 (GRCm39)	missense	probably damaging	1.00
IGL03161:Trip12	APN	1	84,738,853 (GRCm39)	unclassified	probably benign
IGL03388:Trip12	APN	1	84,720,907 (GRCm39)	missense	probably damaging	0.99
cardamom	UTSW	1	84,726,997 (GRCm39)	missense	probably damaging	0.99
pungent	UTSW	1	84,771,636 (GRCm39)	missense	possibly damaging	0.70
spices	UTSW	1	84,771,596 (GRCm39)	missense	probably benign	0.10
sulfuric	UTSW	1	84,736,771 (GRCm39)	missense	probably benign	0.19
Turmeric	UTSW	1	84,732,064 (GRCm39)	missense	probably benign	0.07
LCD18:Trip12	UTSW	1	84,754,482 (GRCm38)	unclassified	probably benign
R0090:Trip12	UTSW	1	84,709,857 (GRCm39)	splice site	probably benign
R0111:Trip12	UTSW	1	84,736,854 (GRCm39)	unclassified	probably benign
R0471:Trip12	UTSW	1	84,703,928 (GRCm39)	missense	probably damaging	1.00
R0486:Trip12	UTSW	1	84,738,805 (GRCm39)	nonsense	probably null
R0557:Trip12	UTSW	1	84,702,468 (GRCm39)	missense	probably damaging	1.00
R0570:Trip12	UTSW	1	84,729,269 (GRCm39)	missense	probably damaging	1.00
R0614:Trip12	UTSW	1	84,735,482 (GRCm39)	missense	probably damaging	1.00
R0627:Trip12	UTSW	1	84,746,318 (GRCm39)	missense	probably damaging	1.00
R0630:Trip12	UTSW	1	84,771,636 (GRCm39)	missense	possibly damaging	0.70
R0657:Trip12	UTSW	1	84,736,771 (GRCm39)	missense	probably benign	0.19
R0741:Trip12	UTSW	1	84,722,902 (GRCm39)	missense	probably benign	0.09
R0862:Trip12	UTSW	1	84,721,730 (GRCm39)	missense	probably damaging	0.99
R0864:Trip12	UTSW	1	84,721,730 (GRCm39)	missense	probably damaging	0.99
R1252:Trip12	UTSW	1	84,754,071 (GRCm39)	nonsense	probably null
R1455:Trip12	UTSW	1	84,736,821 (GRCm39)	missense	probably benign	0.01
R1487:Trip12	UTSW	1	84,746,352 (GRCm39)	missense	probably damaging	1.00
R1702:Trip12	UTSW	1	84,722,784 (GRCm39)	missense	probably damaging	1.00
R1781:Trip12	UTSW	1	84,708,342 (GRCm39)	missense	probably benign	0.01
R1847:Trip12	UTSW	1	84,726,990 (GRCm39)	missense	probably damaging	1.00
R1854:Trip12	UTSW	1	84,705,866 (GRCm39)	missense	probably damaging	1.00
R1866:Trip12	UTSW	1	84,722,781 (GRCm39)	missense	probably damaging	1.00
R1926:Trip12	UTSW	1	84,727,012 (GRCm39)	missense	probably damaging	0.98
R1935:Trip12	UTSW	1	84,771,822 (GRCm39)	missense	possibly damaging	0.46
R1950:Trip12	UTSW	1	84,738,522 (GRCm39)	missense	probably damaging	1.00
R1994:Trip12	UTSW	1	84,726,893 (GRCm39)	missense	probably damaging	1.00
R2014:Trip12	UTSW	1	84,738,587 (GRCm39)	nonsense	probably null
R2391:Trip12	UTSW	1	84,792,511 (GRCm39)	frame shift	probably null
R2423:Trip12	UTSW	1	84,792,511 (GRCm39)	frame shift	probably null
R2433:Trip12	UTSW	1	84,721,544 (GRCm39)	missense	possibly damaging	0.84
R2905:Trip12	UTSW	1	84,732,064 (GRCm39)	missense	probably benign	0.07
R3040:Trip12	UTSW	1	84,719,966 (GRCm39)	missense	probably benign	0.13
R3735:Trip12	UTSW	1	84,792,511 (GRCm39)	frame shift	probably null
R3907:Trip12	UTSW	1	84,709,827 (GRCm39)	missense	possibly damaging	0.53
R4394:Trip12	UTSW	1	84,703,462 (GRCm39)	missense	probably damaging	1.00
R4540:Trip12	UTSW	1	84,726,997 (GRCm39)	missense	probably damaging	0.99
R4859:Trip12	UTSW	1	84,771,531 (GRCm39)	missense	probably damaging	0.99
R5240:Trip12	UTSW	1	84,771,854 (GRCm39)	missense	probably benign
R5278:Trip12	UTSW	1	84,739,868 (GRCm39)	missense	probably damaging	1.00
R5377:Trip12	UTSW	1	84,735,152 (GRCm39)	missense	probably damaging	1.00
R5510:Trip12	UTSW	1	84,746,401 (GRCm39)	missense	probably damaging	1.00
R5542:Trip12	UTSW	1	84,727,065 (GRCm39)	missense	probably damaging	1.00
R5550:Trip12	UTSW	1	84,738,820 (GRCm39)	missense	probably damaging	0.99
R5886:Trip12	UTSW	1	84,708,179 (GRCm39)	intron	probably benign
R5893:Trip12	UTSW	1	84,736,884 (GRCm39)	unclassified	probably benign
R5914:Trip12	UTSW	1	84,741,179 (GRCm39)	missense	probably damaging	1.00
R5925:Trip12	UTSW	1	84,726,974 (GRCm39)	nonsense	probably null
R5985:Trip12	UTSW	1	84,703,492 (GRCm39)	missense	probably damaging	0.99
R6135:Trip12	UTSW	1	84,738,559 (GRCm39)	missense	probably benign	0.00
R6158:Trip12	UTSW	1	84,738,733 (GRCm39)	missense	possibly damaging	0.84
R6419:Trip12	UTSW	1	84,771,591 (GRCm39)	missense	probably damaging	1.00
R6816:Trip12	UTSW	1	84,771,435 (GRCm39)	missense	probably damaging	0.99
R7144:Trip12	UTSW	1	84,771,435 (GRCm39)	missense	probably damaging	0.99
R7194:Trip12	UTSW	1	84,771,943 (GRCm39)	missense	probably benign	0.07
R7355:Trip12	UTSW	1	84,792,604 (GRCm39)	missense	probably damaging	1.00
R7361:Trip12	UTSW	1	84,728,163 (GRCm39)	missense	probably damaging	0.98
R7588:Trip12	UTSW	1	84,738,604 (GRCm39)	missense	probably damaging	0.99
R7705:Trip12	UTSW	1	84,755,170 (GRCm39)	missense	probably damaging	1.00
R7818:Trip12	UTSW	1	84,738,527 (GRCm39)	missense	probably damaging	1.00
R7918:Trip12	UTSW	1	84,722,784 (GRCm39)	missense	probably damaging	0.98
R8127:Trip12	UTSW	1	84,716,463 (GRCm39)	missense	probably damaging	0.99
R8221:Trip12	UTSW	1	84,743,771 (GRCm39)	missense	possibly damaging	0.80
R8336:Trip12	UTSW	1	84,743,762 (GRCm39)	missense	probably benign	0.37
R8373:Trip12	UTSW	1	84,773,488 (GRCm39)	missense	probably damaging	0.98
R8719:Trip12	UTSW	1	84,722,790 (GRCm39)	missense	probably damaging	0.98
R8771:Trip12	UTSW	1	84,721,018 (GRCm39)	unclassified	probably benign
R8997:Trip12	UTSW	1	84,771,596 (GRCm39)	missense	probably benign	0.10
R9146:Trip12	UTSW	1	84,771,881 (GRCm39)	missense	possibly damaging	0.89
R9236:Trip12	UTSW	1	84,703,550 (GRCm39)	missense	probably damaging	1.00
R9338:Trip12	UTSW	1	84,727,019 (GRCm39)	missense	probably damaging	0.99
R9391:Trip12	UTSW	1	84,773,473 (GRCm39)	missense	probably benign	0.00
R9516:Trip12	UTSW	1	84,735,215 (GRCm39)	missense	probably damaging	1.00
X0023:Trip12	UTSW	1	84,738,508 (GRCm39)	missense	probably benign	0.12
X0065:Trip12	UTSW	1	84,726,884 (GRCm39)	missense	probably benign	0.21
Z1088:Trip12	UTSW	1	84,743,889 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTACATTTCCCAATGCCTTTCAGAA -3'
(R):5'- ACTGGTGTTTGGCAAAGTAACCAAGA -3'

Sequencing Primer
(F):5'- GGAGTTCAAAACTTACCTCATTTTCA -3'
(R):5'- agtcctctctacaacctttttcc -3'

Posted On

2014-01-05